Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection

J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cell Line
  • Cells, Cultured
  • Chorionic Villi / enzymology
  • Dehydrocholesterols / metabolism
  • Fibroblasts / enzymology
  • Humans
  • Infant, Newborn
  • Male
  • Oxidoreductases / metabolism*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Skin / cytology
  • Skin / enzymology
  • Smith-Lemli-Opitz Syndrome / diagnosis*
  • Smith-Lemli-Opitz Syndrome / enzymology*

Substances

  • Dehydrocholesterols
  • 7-dehydrocholesterol
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase